Hmcn1 - SNV Details



 Gene Information 
Gene Name Hmcn1
Old Gene Names for Hmcn1 Eg545370 , Gm201
Gene Description hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]
Uniprot Name
CCDS Name
Gene GO
basement membrane; vascular endothelial growth factor-activated receptor activity; cell cortex; integral to plasma membrane; protein binding; cell junction; extracellular region; ATP binding; biological_process; vascular endothelial growth factor receptor signaling pathway; calcium ion binding; molecular_function
Omim http://omim.org/entry/608548
Immgen Expression
LOW
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
MEDIAN
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MEDIAN
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MEDIAN
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MEDIAN
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MEDIAN
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MEDIAN
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Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066842
Chromosome 1
Coordinate 150,630,728     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gTt
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.60
A:V0.40
Amino Acid Position 3776
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL02115
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved